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A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.

Ana WestenbergerCharles Jourdan ReyesGerard SaranzaValerija DobricicHenrike HanssenAloysius DomingoBjörn-Hergen LaabsSusen SchaakeJelena PozojevicAleksandar RakovicKaren GrützKimberly BegemannUwe WalterDirk DresslerPeter BauerArndt RolfsAlexander MünchauFrank J KaiserLaurie J OzeliusRoland Dominic JamoraRaymond L RosalesCid Czarina E DiestaKatja LohmannInke Regina KönigNorbert BrüggemannChristine Klein
Published in: Annals of neurology (2019)
The hexanucleotide repeat within the SVA insertion acts as a genetic modifier of disease expressivity in XDP. RN-dependent TAF1 repression and subsequent differences in TAF1 mRNA levels in patients may be potentiated in the brain through somatic variability leading to the neurological phenotype. ANN NEUROL 2019;85:812-822.
Keyphrases
  • copy number
  • deep brain stimulation
  • parkinson disease
  • early onset
  • cerebral ischemia
  • white matter
  • genome wide
  • resting state
  • drug induced
  • neural network
  • binding protein
  • multiple sclerosis